Article
Clinical Neurology
Arthur Stefanski, Eduardo Perez-Palma, Tobias Bruenger, Ludovica Montanucci, Cornelius Gati, Chiara Kloeckner, Katrine M. Johannesen, Kimberly Goodspeed, Marie Macnee, Alexander T. Deng, Angel Aledo-Serrano, Artem Borovikov, Maina Kava, Arjan M. Bouman, M. J. Hajianpour, Deb K. Pal, Marc Engelen, Eveline E. O. Hagebeuk, Marwan Shinawi, Alexis R. Heidlebaugh, Kathryn Oetjens, Trevor L. Hoffman, Pasquale Striano, Amanda S. Freed, Line Futtrup, Thomas Balslev, Anna Abuli, Leslie Danvoye, Damien Lederer, Tugce Balci, Maryam Nabavi Nouri, Elizabeth Butler, Sarah Drewes, Kalene van Engelen, Katherine B. Howell, Jean Khoury, Patrick May, Marena Trinidad, Steven Froelich, Johannes R. Lemke, Jacob Tiller, Amber N. Freed, Jing-Qiong Kang, Arthur Wuster, Rikke S. Moller, Dennis Lal
Summary: Genetic variants in the SLC6A1 gene can cause a broad spectrum of phenotypic diseases by altering the protein function. Through the aggregation of genetic and clinical data, as well as functional data, the study found potential associations between variant positions on the GAT1 3D structure, variant pathogenicity, altered molecular function, and phenotype severity.
Editorial Material
Clinical Neurology
Andreas Brunklaus, Alfred L. George, Dennis Lal, Erin L. Heinzen, Alica M. Goldman
Summary: The recent increase in epilepsy genetic testing has posed challenges for interpreting gene variants. Assessing the functional effects of genetic variants through predictive or experimental strategies can help determine pathogenicity, but there is no consensus on which approach is optimal. A session during the Annual American Epilepsy Society Meeting in December 2022, hosted by the Special Interest Group on Epilepsy Genetics, discussed the advantages and limitations of predicting (prophecy) versus experimentally determining (empiricism) variant function using ion channel gene variants as examples. This commentary provides an overview of these discussions.
Article
Genetics & Heredity
Cato Romero, Josefin Werme, Philip R. Jansen, Joel Gelernter, Murray B. Stein, Daniel Levey, Renato Polimanti, Christiaan de Leeuw, Danielle Posthuma, Mats Nagel, Sophie Van der Sluis
Summary: The comorbidity among psychiatric disorders is supported by genetic correlations, but finding shared biological mechanisms remains challenging due to variation in power and genetic architecture between disorders.
Article
Neurosciences
Tianyuan Lu, Vincenzo Forgetta, Celia M. T. Greenwood, Sirui Zhou, J. Brent Richards
Summary: A study found that circulating proteins are associated with the risk of psychiatric disorders. Increased levels of circulating TIMP4 are associated with a reduced risk of anorexia nervosa and bipolar disorder, while increased levels of circulating ESAM are associated with an increased risk of schizophrenia. Furthermore, there are 58 other protein-disease associations that need further validation.
BIOLOGICAL PSYCHIATRY
(2023)
Review
Psychology, Clinical
Andrew D. Grotzinger
Summary: Psychiatric disorders show substantial genetic overlap, with over a hundred genetic variants identified that affect multiple disorders and more to be uncovered as sample sizes continue to grow. Psychiatric genomics has made rapid progress in the last decade, shedding light on the biological makeup of cross-disorder risk.
PSYCHOLOGICAL MEDICINE
(2021)
Review
Immunology
Oyebola O. Oyesola, Camila Oliveira Silva Souza, P'ng Loke
Summary: Helminth infections affect over 2 billion people worldwide, with host genetics and environmental factors playing critical roles in regulating immune responses. Studying the interactions between environment and genetic factors in helminth infections could lead to the development of new preventive and therapeutic options.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Genetics & Heredity
Zhang Chuan, Cai Ruikun, Li Qian, Mei Shiyue, Hao Shengju, Yuan Yong, Li Haibo, Xiao Neng, Zhao Yong, Xue Huiqin, Wang Weijia, Hui Ling, Zhou Bingbo, Qinghua Zhang, Wang Yan, Cao Zongfu, Ma Xu
Summary: This study analyzed a Chinese cohort of infants and children with epilepsy to identify genetic and phenotype characteristics. Through whole exome sequencing, a genetic diagnosis was established in 135 out of 260 patients. The study identified 142 variants in 81 genes, of which 87 variants in 66 genes were novel.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Wenjuan Zhou, Yuzhen Ouyang, Yuqiao Ji, Qiong Xi, Lingling Zhao
Summary: This study investigates the correlation between gene mutation, PCDH19 protein structure, and phenotype heterogeneity in a five-generation pedigree of seven female patients with PCDH19-FE. Two specific variants in the PCDH19 gene were identified, which resulted in altered protein function. Despite exhibiting different clinical phenotypes, all female patients shared one of the variants, demonstrating a strong genotype-phenotype heterogeneity in this pedigree.
FRONTIERS IN NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Carrie L. Welch, Wendy K. Chung
Summary: Pulmonary arterial hypertension (PAH) is a rare and progressive vascular disease with no curative treatments available. Genetic variants are found in a significant portion of PAH patients, and understanding their diagnoses can inform clinical management, risk stratification, and the development of new therapies.
Review
Psychology, Clinical
A. Havdahl, M. Niarchou, A. Starnawska, M. Uddin, C. van der Merwe, V Warrier
Summary: Autism spectrum disorder is a heterogeneous neurodevelopmental condition characterized by impaired communication and social interaction, alongside restricted and repetitive behaviors and interests. Recent genetic research has identified common and rare variants contributing to the disorder, with different risk genes converging on mechanisms such as gene regulation and synaptic connectivity. Further research is needed to better understand the genetic architecture of autism and integrate multi-omics data for comprehensive analysis.
PSYCHOLOGICAL MEDICINE
(2021)
Article
Psychology, Clinical
Shannon E. Cusack, Fazil Aliev, Daniel Bustamante, Danielle M. Dick, Ananda B. Amstadter
Summary: Although trauma exposure is a risk factor for psychiatric disorders, not everyone develops a disorder, which may be due to resilience. This study aimed to examine the genetic underpinnings of psychiatric resilience using GWAS, GCTA, and PRS analyses. The results suggest the need for further research to understand the etiology of resilience and its overlap with certain disorders.
EUROPEAN JOURNAL OF PSYCHOTRAUMATOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Cheng-Tsung Hsiao, Thomas F. Tropea, Ssu-Ju Fu, Tanya M. Bardakjian, Pedro Gonzalez-Alegre, Bing-Wen Soong, Chih-Yung Tang, Chung-Jiuan Jeng
Summary: A KCND3 variant associated with iron accumulation-related cerebellar ataxia was identified, leading to increased potassium current amplitudes and changes in voltage-dependent gating properties. This rare gain-of-function variant may expand the clinical and molecular spectra of neurodegenerative cerebellar disorders associated with brain iron accumulation, in contrast to previously reported loss-of-function mutations in KCND3.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Atay Vural, Gulsah Simsir, Seyma Tekgul, Cemile Kocoglu, Fulya Akcimen, Ece Kartal, Nesli E. Sen, Suna Lahut, Ozgur Omur, Nazan Saner, Tugce Gul, Elif Bayraktar, Robin Palvadeau, Ceren Tunca, Caroline Pirkevi Cetinkaya, Asli Gundogdu Eken, Irmak Sahbaz, Muge Kovancilar Koc, Ozgur Oztop Cakmak, Hasmet Hanagasi, Basar Bilgic, Mefkure Eraksoy, Aysegul Gunduz, Hulya Apaydin, Gunes Kiziltan, Sibel Ozekmekci, Aksel Siva, Ayse Altintas, Zeynep E. Kaya Gulec, Yesim Parman, Piraye Oflazer, Feza Deymeer, Hacer Durmus, Erdi Sahin, Arman Cakar, Zeynep Tufekcioglu, Pinar Tekturk, M. Osman Corbali, Hulya Tireli, Gulden Akdal, Uluc Yis, Semra Hiz, Ihsan Sengun, Elcin Bora, Gul Serdaroglu, Sevda Erer Ozbek, Kadriye Agan, Dilek Ince Gunal, Onder Us, Semiha G. Kurt, Durdane Aksoy, Ayse Bora Tokcaer, Muhsin Elmas, Murat Gultekin, Sefer Kumandas, Hamit Acer, Gul D. Kaya Ozcora, Vildan Yayla, Aysun Soysal, Gencer Genc, Halil Gulluoglu, Dilcan Kotan, Zeynep Ozozen Ayas, Huseyin A. Sahin, Ersin Tan, Meral Topcu, Esen Saka Topcuoglu, Cenk Akbostanci, Filiz Koc, Sibel Ertan, Bulent Elibol, A. Nazli Basak
Summary: This study aimed to identify the prevalence and genetic structure of hereditary ataxias in the Turkish population. Results showed that mutations in known ataxia genes were identified in 30% of the studied 1296 cases. Through whole-exome sequencing, 48 novel variants were found, indicating a high heterogeneity in the population.
MOVEMENT DISORDERS
(2021)
Article
Gastroenterology & Hepatology
Sally Mortlock, Anton Lord, Grant Montgomery, Martha Zakrzewski, Lisa A. Simms, Krupa Krishnaprasad, Katherine Hanigan, James D. Doecke, Alissa Walsh, Ian C. Lawrance, Peter A. Bampton, Jane M. Andrews, Gillian Mahy, Susan J. Connor, Miles P. Sparrow, Sally Bell, Timothy H. Florin, Jakob Begun, Richard B. Gearry, Graham L. Radford-Smith
Summary: This study identified genetic loci associated with medically refractory ulcerative colitis (UC) through a genome wide association analysis. The findings suggest different genetic risk factors for medically refractory UC compared to non-medically refractory UC. Further research may uncover additional loci related to disease severity.
JOURNAL OF CROHNS & COLITIS
(2023)
Article
Biodiversity Conservation
Pascaline Le Gouar, Dominique Vallet, Aude Ernoult, Eric J. Petit, Yann Rantier, Stephane Dreano, Mohamed Qarro, Nelly Menard
Summary: The study revealed that even in geographic proximity, remote areas beyond 1 km from the forest edge as well as human-dominated areas act as barriers to Barbary macaque movement, disrupting gene flow and indicating an ongoing process of isolation through the detection of private alleles in each population.
BIOLOGICAL CONSERVATION
(2021)